ORPHA:93325

Autosomal dominant Kenny-Caffey syndrome

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Age of onset: Childhood
Status: active

A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant Kenny-Caffey syndrome
fr	Syndrome de Kenny-Caffey autosomique dominant
de	Kenny-Caffey-Syndrom, autosomal-dominantes
es	Síndrome de Kenny-Caffey autosómico dominante
it	Sindrome di Kenny-Caffey autosomica dominante
nl	Autosomaal dominant Kenny-Caffeysyndroom
pt	Síndrome Kenny-Caffey autossómica dominante
pl	Autosomalny dominujący zespół Kenny i Caffey
cs	Autozomálně dominantní Kennyův-Caffeyův syndrom	Autozomálně dominantní Kenny-Caffeyův syndrom
uk	Аутосомно-домінантний синдром Кенні-Каффі
zh	常染色体显性遗传性Kenny-Caffey综合征
tr	Otozomal dominant Kenny-Caffey sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	127000	E		validated
ICD-10	Q87.1	NTBT	attributed	validated
ICD-11	LD24.D	NTBT	index	validated
MONDO	0007478	E		validated
UMLS	C5681457	E		validated
GARD	83	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93419Rare bone disease

Parents in the classifications (1):

ORPHA:2333Kenny-Caffey syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases; rare bone diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FAM111A	Disease-causing germline mutation(s) in	Assessed	HGNC:24725	ENSG00000166801	615292	11q12.1	FAM111 trypsin like peptidase A	23684011[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

30 annotations · validated 2017-10-23

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0005791	Cortical thickening of long bone diaphyses
HP:0000270	Delayed cranial suture closure
HP:0004322	Short stature
HP:0100254	Stenosis of the medullary cavity of the long bones
Frequent (79-30%)
HP:0030346	Abnormal circulating follicle-stimulating hormone level
HP:0001903	Anemia
HP:0002135	Basal ganglia calcification
HP:0007633	Bilateral microphthalmos
HP:0005450	Calvarial osteosclerosis
HP:0000670	Carious teeth
HP:0008198	Congenital hypoparathyroidism
HP:0004331	Decreased skull ossification
HP:0008734	Decreased testicular size
HP:0002750	Delayed skeletal maturation
HP:0001510	Growth delay
HP:0000540	Hypermetropia	Diagnostic criterion
HP:0002905	Hyperphosphatemia
HP:0000316	Hypertelorism
HP:0002199	Hypocalcemic seizures
HP:0003472	Hypocalcemic tetany
HP:0001511	Intrauterine growth retardation
HP:0001085	Papilledema
HP:0008897	Postnatal growth retardation
HP:0005490	Postnatal macrocephaly
HP:0011220	Prominent forehead
HP:0007862	Retinal calcification
HP:0006470	Thin long bone diaphyses
Occasional (29-5%)
HP:0001620	Abnormally high-pitched voice
HP:0000519	Developmental cataract
HP:0006335	Persistence of primary teeth

Run the differential on the 4 obligate / very frequent terms

Annotation source: 1308349[PMID]_6023894[PMID]_5322798[PMID]_444124[PMID]_6342392[PMID]_3746537[PMID]_3381667[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93325
This record as JSON: /data/d/93325.json